scholarly journals Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations

2013 ◽  
Vol 34 (11) ◽  
pp. 1537-1546 ◽  
Author(s):  
Donna S. Mackay ◽  
Arundhati Dev Borman ◽  
Ruifang Sui ◽  
L. Ingeborgh van den Born ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Large Cohort ◽  
Leber Congenital Amaurosis ◽  
New Genotype

scholarly journals Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations

2013 ◽  
Vol 35 (1) ◽  
pp. 150-150
Author(s):  
Donna S. Mackay ◽  
Arundhati Dev Borman ◽  
Ruifang Sui ◽  
L. Ingeborgh van den Born ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Large Cohort ◽  
Leber Congenital Amaurosis ◽  
New Genotype

Mutation analysis of Leber congenital amaurosis-associated genes in patients with retinitis pigmentosa

2014 ◽  
Vol 11 (3) ◽  
pp. 1827-1832 ◽  
Author(s):  
TAO SHEN ◽  
LIPING GUAN ◽  
SHIQIANG LI ◽  
JIANGUO ZHANG ◽  
XUESHAN XIAO ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Analysis ◽  
Leber Congenital Amaurosis

scholarly journals Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype

2018 ◽  
Vol 28 (1) ◽  
pp. 105-123 ◽  
Author(s):  
Peter M Quinn ◽  
Aat A Mulder ◽  
C Henrique Alves ◽  
Mélissa Desrosiers ◽  
Sharon I de Vries ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Glial Cells ◽  
Photoreceptor Cells ◽  
Ultrastructural Level ◽  
Peripheral Retina ◽  
Double Knockout ◽  
Leber Congenital Amaurosis ◽  
Müller Glial Cells ◽  
Central Retina ◽  
Photoreceptor Synapse

Abstract Variations in the human Crumbs homolog-1 (CRB1) gene lead to an array of retinal dystrophies including early onset of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) in children. To investigate the physiological roles of CRB1 and CRB2 in retinal Müller glial cells (MGCs), we analysed mouse retinas lacking both proteins in MGC. The peripheral retina showed a faster progression of dystrophy than the central retina. The central retina showed retinal folds, disruptions at the outer limiting membrane, protrusion of photoreceptor nuclei into the inner and outer segment layers and ingression of photoreceptor nuclei into the photoreceptor synaptic layer. The peripheral retina showed a complete loss of the photoreceptor synapse layer, intermingling of photoreceptor nuclei within the inner nuclear layer and ectopic photoreceptor cells in the ganglion cell layer. Electroretinography showed severe attenuation of the scotopic a-wave at 1 month of age with responses below detection levels at 3 months of age. The double knockout mouse retinas mimicked a phenotype equivalent to a clinical LCA phenotype due to loss of CRB1. Localization of CRB1 and CRB2 in non-human primate (NHP) retinas was analyzed at the ultrastructural level. We found that NHP CRB1 and CRB2 proteins localized to the subapical region adjacent to adherens junctions at the outer limiting membrane in MGC and photoreceptors. Our data suggest that loss of CRB2 in MGC aggravates the CRB1-associated RP-like phenotype towards an LCA-like phenotype.

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

2019 ◽  
Vol 104 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Marina Riera ◽  
Víctor Abad-Morales ◽  
Rafael Navarro ◽  
Sheila Ruiz-Nogales ◽  
Pilar Méndez-Vendrell ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Macular Dystrophy ◽  
Nucleotide Polymorphisms ◽  
Autofluorescence Imaging ◽  
New Genotype

PurposeThis study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).MethodsClinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinography, fundus autofluorescence imaging, optical coherence tomography, electroretinography and visual field tests). Panel-based whole exome sequencing was used to simultaneously analyse 224 IRD genes in one affected member of each family. The putative causative variants were confirmed by Sanger sequencing and cosegregation analyses. Haplotype analysis was performed using single nucleotide polymorphisms.ResultsA homozygous missense mutation c.606C>A (p.Asp202Glu) in RP1 was found to be the molecular cause of IRD in all 12 families from Kuwait. These patients exhibited comparable symptoms, including progressive decline in visual acuity since adolescence. Fundus autofluorescence images revealed bilateral macular retinal pigment epithelium disturbances, with neither perimacular flecks nor peripheral alterations. A shared haplotype spanning at least 1.1 Mb was identified in all families, suggesting a founder effect. Furthermore, RP1 variants involving nonsense and/or frameshifting mutations (three of them novel) were identified in three Spanish autosomal-recessive RP families and one dominant RP pedigree.ConclusionThis study describes, for the first time, a macular dystrophy phenotype caused by an RP1 mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.

scholarly journals AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa

Gene Therapy ◽  
2015 ◽  
Vol 22 (8) ◽  
pp. 619-627 ◽  
Author(s):  
H Zhong ◽  
A Eblimit ◽  
Y Moayedi ◽  
S L Boye ◽  
V A Chiodo ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Knockout Mouse ◽  
Knockout Mouse Model ◽  
Leber Congenital Amaurosis

scholarly journals Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

2009 ◽  
Vol 84 (3) ◽  
pp. 380-387 ◽  
Author(s):  
Hui Wang ◽  
Anneke I. den Hollander ◽  
Yalda Moayedi ◽  
Abuduaini Abulimiti ◽  
Yumei Li ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Leber Congenital Amaurosis
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